Goebel H H, Vesa J, Reitter B, Goecke T O, Schneider-Rätzke B, Merz E
Division of Neuropathology, University of Mainz Medical Center, Germany.
Brain Dev. 1995 Mar-Apr;17(2):83-8. doi: 10.1016/0387-7604(95)00012-z.
Based on two unrelated index patients afflicted with INCL, fetal chorion tissues were studied from subsequent pregnancies of the two respective mothers resulting in the prenatal diagnosis of INCL in two of the three pregnancies. Documentation of INCL was based on electron microscopy and DNA studies of the biopsied chorion tissue, later confirmed in the two affected fetuses after termination of their pregnancies by demonstrating INCL-specific lipopigments in post-mortem tissues, in the liver of both aborted fetuses and, additionally, in spleen and skeletal muscle of one of the affected fetuses. The autolysis of the aborted tissues, however, precluded a systematic documentation of all affected cell types and tissues. Thus, prenatal diagnosis of INCL is feasible and reliable for both Finnish and non-Finnish families.
基于两名患有婴儿型神经元蜡样脂褐质沉积病（INCL）的无血缘关系的索引患者，对两位母亲随后妊娠的胎儿绒毛组织进行了研究，在三次妊娠中有两次实现了INCL的产前诊断。INCL的诊断依据是对活检绒毛组织进行电子显微镜检查和DNA研究，随后在终止妊娠后对两名患病胎儿进行尸检组织检查，在两个流产胎儿的肝脏中，另外在其中一名患病胎儿的脾脏和骨骼肌中发现了INCL特异性脂褐素，从而证实了诊断。然而，流产组织的自溶现象使得无法对所有受影响的细胞类型和组织进行系统记录。因此，对于芬兰和非芬兰家庭而言，INCL的产前诊断都是可行且可靠的。
